Extended Data Fig. 10: Related to Figs. 3 and 4: gait characterization of Hpdl+/+, Hpdl+/−, Hpdl−/− and 4-HMA-treated Hpdl−/− mice, and brain MRI from a patient with biallelic HPDL variants receiving the CoQ10 headgroup intermediate 4-HB.
From: Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy
a, Additional catwalk data from 6–8-week-old Hpdl+/+, Hpdl+/−, and 4-HMA-treated Hpdl−/− mice reveal no significant differences in gait parameters between the groups of mice. A, stride length. B, swing phase duration. C, stance phase duration. D, cadence. E, base of support. F, maximum contact intensity. G, symmetry index for stride length. b, T1- and T2-weighted brain MRI images from a patient with biallelic HPDL variants before treatment with 4-HB (day 0; panels A and B) and 30 days after treatment with 4-HB (panels C and D). For behavioral tests, data from male mice (n: Hpdl+/+= 4, Hpdl+/−= 5, 4-HMA-treated Hpdl−/−=4) are plotted as triangles. Data from female mice (n: Hpdl+/+= 4, Hpdl+/−=2, 4-HMA-treated Hpdl−/−=5) are plotted as circles. Behavioral data do not contain comparisons to untreated Hpdl−/− mice, which do not survive to the age at which these behavioral assays are carried out. Data presented are mean ± standard error of the mean, as well as raw data. Behavioral data are presented as box and whisker plots, where the center is the median, the box bounds are the 25th to 75th percentiles, and whiskers indicate minimum to maximum. Significance was tested by two-way ANOVA followed by Tukey’s post-hoc test.
